David Coman
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View article: Holocarboxylase Synthetase Deficiency: A Second Case Report With Neonatal Cholestatic Liver Disease
Holocarboxylase Synthetase Deficiency: A Second Case Report With Neonatal Cholestatic Liver Disease Open
Holocarboxylase synthetase deficiency is an autosomal recessive inborn error of metabolism characterised by life‐threatening metabolic acidosis, ketoacidosis and hyperammonaemia through reduced biotin‐dependent carboxylase activity. We rep…
View article: Lets talk about ataxia-telangiectasia: Meeting report of the AT clinical research conference June 2025
Lets talk about ataxia-telangiectasia: Meeting report of the AT clinical research conference June 2025 Open
Almost fifty years after the identification of ataxia telangiectasia (A-T) as a radiosensitive disorder and thirty years following the identification of ataxia telangiectasia mutated (ATM) as the defective gene, clinicians and scientists g…
View article: PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia
PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia Open
Polypyrimidine tract-binding protein 1 (PTBP1) is a heterogeneous nuclear ribonucleoprotein primarily known for its alternative splicing activity. It shuttles between the nucleus and cytoplasm via partially overlapping N-terminal nuclear l…
View article: Childhood motor speech disorders: who to prioritise for genetic testing
Childhood motor speech disorders: who to prioritise for genetic testing Open
The aetiology of childhood motor speech disorders of dysarthria and apraxia has been poorly understood. Recent evidence suggests a moderate genetic contribution for these rare and severe speech disorders. To date however, no studies have e…
View article: Breaking the ratio: type I autoimmune hepatitis in a school aged boy
Breaking the ratio: type I autoimmune hepatitis in a school aged boy Open
Autoimmune hepatitis in the pediatric population, a relatively rare pathology, that might be overlooked by clinicians, poses an important threat if left untreated. Autoimmune hepatitis type 1 (AIH type 1) is defined by a 4:1 female-to-male…
View article: Artificial Intelligence-assisted Pixel-level Lung (APL) Scoring for Fast and Accurate Quantification in Ultra-short Echo-time MRI
Artificial Intelligence-assisted Pixel-level Lung (APL) Scoring for Fast and Accurate Quantification in Ultra-short Echo-time MRI Open
Lung magnetic resonance imaging (MRI) with ultrashort echo-time (UTE) represents a recent breakthrough in lung structure imaging, providing image resolution and quality comparable to computed tomography (CT). Due to the absence of ionising…
View article: Atypical infantile meningococcal meningitis: diagnostic pitfalls and successful management
Atypical infantile meningococcal meningitis: diagnostic pitfalls and successful management Open
Introduction. Meningococcal meningitis is an acute bacterial infection of the meninges caused by Neisseria meningitidis. It remains a significant global health concern due to its rapid progression, high fatality rate, and potential for out…
View article: MIS-C presentation in an adolescent with associated Osgood-Schlatter disease: a diagnostic challenge
MIS-C presentation in an adolescent with associated Osgood-Schlatter disease: a diagnostic challenge Open
Case report. Multisystem inflammatory syndrome in children (MIS-C) is a severe inflammatory condition associated with SARS-CoV-2 infection, characterized by fever, multisystem involvement, and elevated inflammatory markers. Its presentatio…
View article: Biomarkers in Ataxia-Telangiectasia: a Systematic Review
Biomarkers in Ataxia-Telangiectasia: a Systematic Review Open
Ataxia-Telangiectasia (A-T) is a very rare multisystem disease of DNA repair, associated with progressive disabling neurological symptoms, respiratory failure, immunodeficiency and cancer predisposition, leading to premature death. There a…
View article: Deformation-aware GAN for Medical Image Synthesis with Substantially Misaligned Pairs
Deformation-aware GAN for Medical Image Synthesis with Substantially Misaligned Pairs Open
Medical image synthesis generates additional imaging modalities that are costly, invasive or harmful to acquire, which helps to facilitate the clinical workflow. When training pairs are substantially misaligned (e.g., lung MRI-CT pairs wit…
View article: Molecular genetic analysis of candidate genes for glutaric aciduria type II in a cohort of patients from Queensland, Australia
Molecular genetic analysis of candidate genes for glutaric aciduria type II in a cohort of patients from Queensland, Australia Open
Glutaric aciduria type II (GAII) is a heterogeneous genetic disorder affecting mitochondrial fatty acid, amino acid and choline oxidation. Clinical manifestations vary across the lifespan and onset may occur at any time from the early neon…
View article: Reduced Protein Import via TIM23 SORT Drives Disease Pathology in TIMM50-Associated Mitochondrial Disease
Reduced Protein Import via TIM23 SORT Drives Disease Pathology in TIMM50-Associated Mitochondrial Disease Open
TIMM50 is a core subunit of the TIM23 complex, the mitochondrial inner membrane translocase responsible for the import of pre-sequence-containing precursors into the mitochondrial matrix and inner membrane. Here we describe a mitochondrial…
View article: Brain function in classic galactosemia, a galactosemia network (GalNet) members review
Brain function in classic galactosemia, a galactosemia network (GalNet) members review Open
Classic galactosemia (CG, OMIM #230400, ORPHA: 79,239) is a hereditary disorder of galactose metabolism that, despite treatment with galactose restriction, affects brain function in 85% of the patients. Problems with cognitive function, ne…
View article: DOP34 Deciphering immune-epithelial interactions in health and in Inflammatory Bowel Disease
DOP34 Deciphering immune-epithelial interactions in health and in Inflammatory Bowel Disease Open
Background Intestinal homeostasis is dependent on appropriate interactions between various compartments including immune, mesenchymal, neural, epithelial and bacteria cells. Disrupt of these interactions has been associated with the develo…
View article: The Australian Genomics Mitochondrial Flagship: A National Program Delivering Mitochondrial Diagnoses
The Australian Genomics Mitochondrial Flagship: A National Program Delivering Mitochondrial Diagnoses Open
Purpose Families living with mitochondrial diseases (MD) often endure prolonged diagnostic journeys and invasive testing, yet many remain without a molecular diagnosis. The Australian Genomics Mitochondrial flagship, comprising clinicians,…
View article: Development of cancer surveillance guidelines in ataxia telangiectasia: A Delphi‐based consensus survey of international experts
Development of cancer surveillance guidelines in ataxia telangiectasia: A Delphi‐based consensus survey of international experts Open
Background/Objectives Ataxia telangiectasia (A‐T) is a multiorgan disorder with increased vulnerability to cancer. Despite this increased cancer risk, there are no widely accepted guidelines for cancer surveillance in people affected by A‐…
View article: <scp>3‐Methylglutaconyl‐CoA</scp> hydratase deficiency: When ascertainment bias confounds a biochemical diagnosis
<span>3‐Methylglutaconyl‐CoA</span> hydratase deficiency: When ascertainment bias confounds a biochemical diagnosis Open
3‐Methylglutaconyl‐CoA hydratase deficiency (MGA1) is a defect in leucine catabolism, which causes the accumulation of urinary 3‐methylglutaconate, with or without 3‐hydroxyisovalerate and 3‐methylglutarate. It is an ultra‐rare condition, …
View article: Generation of iPSC lines from hereditary spastic paraplegia 56 (SPG56) patients and family members carrying CYP2U1 mutations
Generation of iPSC lines from hereditary spastic paraplegia 56 (SPG56) patients and family members carrying CYP2U1 mutations Open
Hereditary spastic paraplegia 56 (SPG56) is an extremely rare autosomal recessive disorder caused by mutations in the CYP2U1 gene, involved in fatty acid metabolism. SPG56 causes progressive spasticity in upper and lower limbs, though due …
View article: N‐acetylglutamate synthase deficiency with associated 3‐methylglutaconic aciduria: A case report
N‐acetylglutamate synthase deficiency with associated 3‐methylglutaconic aciduria: A case report Open
N‐acetylglutamate synthase (NAGS) deficiency is a rare autosomal recessive disorder, which results in the inability to activate the key urea cycle enzyme, carbamoylphosphate synthetase 1 (CPS1). Patients often suffer life‐threatening episo…